X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene

X-linked centronuclear myopathy is caused by pathogenic variants in the MTM1 gene, which encodes myotubularin, a phosphatidylinositol 3-phosphate (PI3P) phosphatase. This form of congenital myopathy predominantly affects males. This study presents a case of X-linked myotubular myopathy in a female c...

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Detalles Bibliográficos
Autores principales: Chausova, Polina, Murtazina, Aysylu, Stepanova, Anna, Borovicov, Artem, Kovalskaia, Valeriia, Ryadninskaya, Nina, Chukhrova, Alena, Ryzhkova, Oxana, Poliakov, Aleksander
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10179330/
https://www.ncbi.nlm.nih.gov/pubmed/37176116
http://dx.doi.org/10.3390/ijms24098409

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